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Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl
The rare association of pontocerebellar hypoplasia with anterior horn cell involvement has been classified as pontocerebellar hypoplasia type 1. Its classic phenotype is usually severe. However, the pontocerebellar hypoplasia type 1 may have wider variability in clinical and radiological features. T...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040042/ https://www.ncbi.nlm.nih.gov/pubmed/24891912 http://dx.doi.org/10.4103/1817-1745.131494 |